Canonical Allele Identifier: CA408564300

Gene: ASXL1

Linked Data

• dbSNP Id: rs1217736138
• gnomAD v2: 20-31024549-T-C
• gnomAD v4: 20-32436746-T-C
• MyVariant Identifiers: chr20:g.31024549T>C (hg19) ; chr20:g.32436746T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436746T>C , CM000682.2:g.32436746T>C	GRCh38
NC_000020.10:g.31024549T>C , CM000682.1:g.31024549T>C	GRCh37
NC_000020.9:g.30488210T>C	NCBI36
NG_027868.1:g.83403T>C , LRG_630:g.83403T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4034T>C MANE Select	ENSP00000364839.4:p.Met1345Thr
ENST00000646985.1:c.3851T>C	ENSP00000495053.1:p.Met1284Thr
ENST00000647223.1:n.6387T>C
ENST00000651418.1:c.1870-1684T>C	ENSP00000499150.1:n.1870-1684T>C
ENST00000306058.9:c.4019T>C	ENSP00000305119.5:p.Met1340Thr
ENST00000375687.8:c.4034T>C	ENSP00000364839.4:p.Met1345Thr
ENST00000613218.4:c.4034T>C	ENSP00000480487.1:p.Met1345Thr
ENST00000620121.4:c.4034T>C	ENSP00000481978.1:p.Met1345Thr
NM_015338.5:c.4034T>C , LRG_630t1:c.4034T>C	NP_056153.2:p.Met1345Thr
XM_006723727.2:c.4031T>C	XP_006723790.1:p.Met1344Thr
XM_006723728.2:c.4004T>C	XP_006723791.1:p.Met1335Thr
XM_006723730.2:c.3950T>C	XP_006723793.1:p.Met1317Thr
XM_006723732.2:c.3851T>C	XP_006723795.1:p.Met1284Thr
XM_006723733.1:c.3350T>C	XP_006723796.1:p.Met1117Thr
XM_011528647.1:c.4298T>C	XP_011526949.1:p.Met1433Thr
XM_011528648.1:c.4295T>C	XP_011526950.1:p.Met1432Thr
XM_011528649.1:c.4214T>C	XP_011526951.1:p.Met1405Thr
XM_011528650.1:c.4145T>C	XP_011526952.1:p.Met1382Thr
XM_011528651.1:c.4013T>C	XP_011526953.1:p.Met1338Thr
XM_011528652.1:c.3950T>C	XP_011526954.1:p.Met1317Thr
NM_001363734.1:c.3851T>C	NP_001350663.1:p.Met1284Thr
XM_006723727.3:c.4031T>C	XP_006723790.1:p.Met1344Thr
XM_006723728.3:c.4004T>C	XP_006723791.1:p.Met1335Thr
XM_006723730.4:c.3950T>C	XP_006723793.1:p.Met1317Thr
XM_011528648.3:c.4295T>C	XP_011526950.1:p.Met1432Thr
XM_011528652.2:c.3950T>C	XP_011526954.1:p.Met1317Thr
XM_017027704.1:c.3950T>C	XP_016883193.1:p.Met1317Thr
XM_017027705.1:c.3950T>C	XP_016883194.1:p.Met1317Thr
XM_017027706.1:c.3881T>C	XP_016883195.1:p.Met1294Thr
NM_015338.6:c.4034T>C MANE Select	NP_056153.2:p.Met1345Thr